ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.631G>A (p.Asp211Asn)

gnomAD frequency: 0.00001  dbSNP: rs773414747
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health RCV000172013 SCV000054774 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV000628916 SCV000749824 uncertain significance Hypertrophic cardiomyopathy 2023-09-10 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 191706). This missense change has been observed in individuals with hypertrophic cardiomyopathy (PMID: 27532257, 28771489). This variant is present in population databases (rs773414747, gnomAD 0.002%). This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 211 of the MYBPC3 protein (p.Asp211Asn).
Color Diagnostics, LLC DBA Color Health RCV003532009 SCV004358777 uncertain significance Cardiomyopathy 2023-02-24 criteria provided, single submitter clinical testing This missense variant replaces aspartic acid with asparagine at codon 211 of the MYBPC3 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has been reported in individuals affected with hypertrophic cardiomyopathy (PMID: 27532257, 28771489). This variant has been identified in 2/243068 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
All of Us Research Program, National Institutes of Health RCV000628916 SCV004828205 uncertain significance Hypertrophic cardiomyopathy 2023-05-30 criteria provided, single submitter clinical testing This missense variant replaces aspartic acid with asparagine at codon 211 of the MYBPC3 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has been reported in individuals affected with hypertrophic cardiomyopathy (PMID: 27532257, 28771489). This variant has been identified in 2/243068 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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